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alfa-mannosidos
Hierarki: | ∟ ∟ ∟ ∟ ∟ ∟ alfa-mannosidos 1 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ alfa-mannosidos 1 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ alfa-mannosidos 1 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ alfa-mannosidos 1 sidobegreppX |
Bredare villkor: | |
Anmärkning: | Carbohydrate Metabolism, Inborn Errors (1966-1984) | Mannose (1966-1984) | Mannosidases (1975-1984) | Mannosidosis (1985-2003) | Metabolism, Inborn Errors (1966-1984)X |
Anmärkning: | An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder.
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historyNote*: | 2004(1985);
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publicMeSHNote*: | 2004; see MANNOSIDOSIS 1984-2003
X |
activeMeSHYear*: | 2007X |
dateCreated*: | 1984-05-29X |
dateEstablished*: | 1985-01-01X |
dateRevised*: | 2006-07-05X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | lktX |
recordOriginator*: | VDKX |
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Typ: | |
Samordna villkor: | |
URI: | |
Termer och motsvarande begrepp: | Alfa-mannosidoosi (fi) XAlfamannosidoosi (fi, ersatt) Mannosidos (sv, ersatt) alpha-Mannosidosis (en) Mannosidosis, alpha B, Lysosomal (en, ersatt) alpha-Mannosidase Deficiency (en, ersatt) Mannosidosis (la-FI, ersatt) |
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